ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828108586
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1917303
ClinVar RCV Id:
RCV002598162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350672.1:p.Ser195Gly
CA370429259
NM_001363743.1:c.583A>G